A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14355193



Internal ID22127722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123148484..123158484hg38UCSC Ensembl
chr10:124908000..124918000hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227217
Supporting Variants
SamplesHG00512
Known GenesBUB3, HMX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14355193
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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